Full data view for gene FANCI

Information The variants shown are described using the transcript reference sequence.

375 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-19-9C>G r.(=) p.(=) Parent #2 g.89790851C>G - FANCI_000076 - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.84+39C>T r.(=) p.(=) Parent #2 g.89791001C>T - FANCI_000056 - - - - DNA SEQ-NG-I 1 BrCa, NHL - F Kedros, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.84+39C>T r.(=) p.(=) Parent #2 g.89791001C>T - FANCI_000056 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Gorgomylos, Preveza, Ammopotamos, Arta Greek no - 1 Despoina Kalfakakou
./. - c.84+39C>T r.(=) p.(=) Parent #2 g.89791001C>T - FANCI_000056 - - - - DNA SEQ-NG-I 1 BrCa - F Elis Lesvos Greek no - 1 Despoina Kalfakakou
./. - c.85-31C>G r.(=) p.(=) Parent #2 g.89801904C>G - FANCI_000111 - - - - DNA SEQ-NG-I 1 ColPol, PNCA2 - M Chania, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.85-31C>G r.(=) p.(=) Parent #2 g.89801904C>G - FANCI_000111 - - - - DNA SEQ-NG-I 1 OVCA - F Kokkino Chorio, Chania Gavalohori, Chania Greek no - 1 Despoina Kalfakakou
./. - c.92A>G r.(?) p.(Asn31Ser) Parent #2 g.89801942A>G - FANCI_000117 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.157+25G>C r.(=) p.(=) Parent #2 g.89802032G>C - FANCI_000112 - - - - DNA SEQ-NG-I 1 ColPol, PNCA2 - M Chania, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.157+25G>C r.(=) p.(=) Parent #2 g.89802032G>C - FANCI_000112 - - - - DNA SEQ-NG-I 1 OVCA - F Kokkino Chorio, Chania Gavalohori, Chania Greek no - 1 Despoina Kalfakakou
./. - c.158-37A>C r.(=) p.(=) Parent #2 g.89803907A>C - FANCI_000074 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Aigio Greek no - 1 Despoina Kalfakakou
./. - c.241T>C r.(=) p.(=) Parent #2 g.89804027T>C - FANCI_000126 - - - - DNA SEQ-NG-I 1 OVCA, PANCA - F Aridaia, Pella & Asia Minor Leptokaria, Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.286G>A r.(?) p.(Glu96Lys) Parent #2 g.89804072G>A - FANCI_000114 - - - - DNA SEQ-NG-I 1 BrCa, MXM - F Edessa Edessa Greek no - 3 Despoina Kalfakakou
./. - c.286G>A r.(?) p.(Glu96Lys) Parent #2 g.89804072G>A - FANCI_000114 - - - - DNA SEQ-NG-I 1 BrCa - F Elis Lesvos Greek no - 1 Despoina Kalfakakou
./. - c.288+10C>T r.(=) p.(=) Parent #2 g.89804084C>T - FANCI_000084 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Evia Greek no - 1 Despoina Kalfakakou
./. - c.288+10C>T r.(=) p.(=) Parent #2 g.89804084C>T - FANCI_000084 - - - - DNA SEQ-NG-I 1 OVCA - F Rhodope Pomaks - Greek no - 1 Despoina Kalfakakou
./. - c.446-37A>G r.(=) p.(=) Parent #2 g.89805015A>G - FANCI_000125 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Chalkidiki Greek no - 1 Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) Parent #2 g.89805020A>G - FANCI_000027 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) Parent #2 g.89805020A>G - FANCI_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Chios - Greek no - 1 Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) Parent #2 g.89805020A>G - FANCI_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Austria - Greek no - 1 Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) Parent #2 g.89805020A>G - FANCI_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Ampelonas, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) Parent #2 g.89805020A>G - FANCI_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Morocco - Moroccan no - 1 Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) Parent #2 g.89805020A>G - FANCI_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Veroia Edessa Greek no - 1 Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) Parent #2 g.89805020A>G - FANCI_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Evinochori, Missolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.446-6T>G r.(=) p.(=) Parent #2 g.89805046T>G - FANCI_000052 - - - - DNA SEQ-NG-I 1 BrCa - F Katerini - Greek no - 1 Despoina Kalfakakou
./. - c.446-6T>G r.(=) p.(=) Parent #2 g.89805046T>G - FANCI_000052 - - - - DNA SEQ-NG-I 1 OVCA - F Chalcis - Greek no - 1 Despoina Kalfakakou
./. - c.446-6T>G r.(=) p.(=) Parent #2 g.89805046T>G - FANCI_000052 - - - - DNA SEQ-NG-I 1 BrCa - M Reihea, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) Parent #2 g.89806601T>C - FANCI_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Poros - Greek no - 1 Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) Parent #2 g.89806601T>C - FANCI_000028 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) Parent #2 g.89806601T>C - FANCI_000028 - - - - DNA SEQ-NG-I 1 CRC, TonsilCa - M Dafni, Kalavryta - Greek no - 3 Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) Parent #2 g.89806601T>C - FANCI_000028 - - - - DNA SEQ-NG-I 1 BrCa, PNCA2, RCC - F Samos - Greek no - 1 Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) Parent #2 g.89806601T>C - FANCI_000028 - - - - DNA SEQ-NG-I 1 Pheo - F Mousoura, Missolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) Parent #2 g.89806601T>C - FANCI_000028 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) Parent #2 g.89806601T>C - FANCI_000028 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) Parent #2 g.89806601T>C - FANCI_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Zarko, Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.546-48C>A r.(=) p.(=) Parent #2 g.89807086C>A - FANCI_000080 - - - - DNA SEQ-NG-I 1 BrCa - F Karpochori, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.546-4A>G r.spl? p.? Parent #2 g.89807130A>G - FANCI_000121 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.593C>T r.(?) p.(Ala198Val) Parent #2 g.89807181C>T - FANCI_000078 - - - - DNA SEQ-NG-I 1 BrCa - F Tichero, Evros - Greek no - 1 Despoina Kalfakakou
./. - c.669+43C>A r.(=) p.(=) Parent #2 g.89807300C>A - FANCI_000066 - - - - DNA SEQ-NG-I 1 BrCa - F Salamina - Greek no - 1 Despoina Kalfakakou
./. - c.670-29del r.(=) p.(=) Parent #2 g.89807724del - FANCI_000060 - - - - DNA SEQ-NG-I 1 BrCa - F Myrina, Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) Parent #2 g.89807795A>G - FANCI_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Kea Drama Greek no - 1 Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) Parent #2 g.89807795A>G - FANCI_000047 - - - - DNA SEQ-NG-I 1 ColPol, CRC, LuCa, NDL, Polyposis - M - - Greek no - 1 Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) Parent #2 g.89807795A>G - FANCI_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) Parent #2 g.89807795A>G - FANCI_000047 - - - - DNA SEQ-NG-I 1 OVCA - F Daras, Messini - Greek no - 1 Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) Parent #2 g.89807795A>G - FANCI_000047 - - - - DNA SEQ-NG-I 1 OVCA - F VolosĀ  - Greek no - 1 Despoina Kalfakakou
./. - c.755+43C>A r.(=) p.(=) Parent #2 g.89807881C>A - FANCI_000063 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.755+50T>C r.(=) p.(=) Parent #2 g.89807888T>C - FANCI_000131 - - - - DNA SEQ-NG-I 1 OVCA - F Russia & Asia Minor Drama Greek no - 1 Despoina Kalfakakou
./. - c.756-8T>C r.(=) p.(=) Parent #2 g.89811622T>C - FANCI_000083 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Alexandroupoli Greek no - 1 Despoina Kalfakakou
./. - c.824T>C r.(?) p.(Ile275Thr) Parent #2 g.89811698T>C - FANCI_000072 - - - - DNA SEQ-NG-I 1 BrCa - F Meligalas, Messinia Platsa, Messinia Greek no - 1 Despoina Kalfakakou
./. - c.824T>C r.(?) p.(Ile275Thr) Parent #2 g.89811698T>C - FANCI_000072 - - - - DNA SEQ-NG-I 1 BrCa - F Magnesia - Greek no - 1 Despoina Kalfakakou
./. - c.839A>G r.(?) p.(Lys280Arg) Parent #2 g.89811713A>G - FANCI_000048 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.839A>G r.(?) p.(Lys280Arg) Parent #2 g.89811713A>G - FANCI_000048 - - - - DNA SEQ-NG-I 1 BrCa - F Markopoulo, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.839A>G r.(?) p.(Lys280Arg) Parent #2 g.89811713A>G - FANCI_000048 - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 4 Despoina Kalfakakou
./. - c.839A>G r.(?) p.(Lys280Arg) Parent #2 g.89811713A>G - FANCI_000048 - - - - DNA SEQ-NG-I 1 - - F Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.919C>G r.(?) p.(Pro307Ala) Parent #2 g.89816644C>G - FANCI_000053 - - - - DNA SEQ-NG-I 1 BrCa - F Gialtra, Aidipsos East Mani Greek no - 1 Despoina Kalfakakou
./. - c.920C>T r.(?) p.(Pro307Leu) Parent #2 g.89816645C>T - FANCI_000054 - - - - DNA SEQ-NG-I 1 BrCa - F Gialtra, Aidipsos East Mani Greek no - 1 Despoina Kalfakakou
./. - c.975+10T>A r.(=) p.(=) Parent #2 g.89816710T>A - FANCI_000070 - - - - DNA SEQ-NG-I 1 BrCa - F Agia, Rethymno Perama, Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.975+11A>T r.(=) p.(=) Parent #2 g.89816711A>T - FANCI_000107 - - - - DNA SEQ-NG-I 1 PrCa - M Georgia - Greek no - 2 Despoina Kalfakakou
./. - c.975+39T>C r.(=) p.(=) Parent #2 g.89816739T>C - FANCI_000128 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Theriso, Chania Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Metsovo Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Corfu Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Zante - Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 6 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Armenia Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 PrCa - M Zaros, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Alexandria, Egypt Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Kythira Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Velesiotes, Domokos Ano Agoriani, Domokos Greek no - 3 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 - - F Kita, Laconia Stavroupoli, Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) Parent #1 g.89816742_89816743insG - FANCI_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Kranidi, Argolis Liksouri, Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.975+42_975+43insGA r.(=) p.(=) Parent #1 g.89816742_89816743insGA - FANCI_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini - Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini - Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 3 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Metsovo Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Corfu Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Zante - Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 6 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Armenia Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 PrCa - M Zaros, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Alexandria, Egypt Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Kythira Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Velesiotes, Domokos Ano Agoriani, Domokos Greek no - 3 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 - - F Kita, Laconia Stavroupoli, Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Kranidi, Argolis Liksouri, Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) Parent #2 g.89816743del - FANCI_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Mystras Mani Greek no - 1 Despoina Kalfakakou
./. - c.975+43_975+44del r.(=) p.(=) Parent #2 g.89816743_89816744del - FANCI_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.975+43_975+44insAA r.(=) p.(=) Parent #1 g.89816743_89816744insAA - FANCI_000132 - - - - DNA SEQ-NG-I 1 BrCa - F Mystras Mani Greek no - 1 Despoina Kalfakakou
./. - c.975+43_975+44insAAA r.(=) p.(=) Parent #1 g.89816743_89816744insAAA - FANCI_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 3 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Symi Rhodes Greek no - 1 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 Polyposis, TRC - F Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Zerma, Konitsa Skado, Naxos Greek no - 1 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Evros - Greek no - 1 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkida Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Kalamata Constantinople Greek no - 5 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Trikala Larisa Greek no - 1 Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) Parent #2 g.89817386A>T - FANCI_000026 - - - - DNA SEQ-NG-I 1 BrCa, CHLC - F Elis Zante Greek no - 1 Despoina Kalfakakou
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